Incidental Mutation 'RF035:Strn'
| ID |
604553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn
|
| Ensembl Gene |
ENSMUSG00000024077 |
| Gene Name |
striatin, calmodulin binding protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
RF035 (G1)
|
| Quality Score |
135.467 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AGTC to AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC
at 78984714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024881]
[ENSMUST00000145910]
|
| AlphaFold |
O55106 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024881
|
| SMART Domains |
Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
276 |
N/A |
INTRINSIC |
|
WD40
|
299 |
338 |
6.04e-8 |
SMART |
|
WD40
|
352 |
391 |
2.42e-7 |
SMART |
|
WD40
|
405 |
444 |
1.21e-7 |
SMART |
|
WD40
|
493 |
539 |
1.28e1 |
SMART |
|
WD40
|
542 |
581 |
4.4e-10 |
SMART |
|
WD40
|
584 |
627 |
2.48e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145480
|
| SMART Domains |
Protein: ENSMUSP00000117663
Gene: ENSMUSG00000024077
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145910
|
| SMART Domains |
Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
45 |
N/A |
INTRINSIC |
|
Pfam:Striatin
|
48 |
177 |
4.2e-50 |
PFAM |
|
low complexity region
|
238 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
429 |
N/A |
INTRINSIC |
|
WD40
|
452 |
491 |
6.04e-8 |
SMART |
|
WD40
|
505 |
544 |
2.42e-7 |
SMART |
|
WD40
|
558 |
597 |
1.21e-7 |
SMART |
|
WD40
|
646 |
692 |
1.28e1 |
SMART |
|
WD40
|
695 |
734 |
4.4e-10 |
SMART |
|
WD40
|
737 |
780 |
2.48e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit increased blood pressure and circulating aldosterone when fed a liberal salt diet. No mice could be generated that were homozygous for the allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
T |
TTTGGCTGCC |
1: 82,891,310 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCCGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
G |
GGCT |
19: 5,475,266 (GRCm39) |
|
probably benign |
Het |
| Amfr |
GCC |
GCCGGCGCGAGCTCC |
8: 94,738,920 (GRCm39) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
TAT |
TATTATTATTATTATGAT |
3: 37,104,907 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,293 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
CTGTGGCTGTGGCTGTGGCTGTGG |
CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG |
19: 47,129,692 (GRCm39) |
|
probably benign |
Het |
| Chga |
G |
GCAT |
12: 102,527,686 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
CGC |
CGCTGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
CCG |
CCGGCG |
17: 24,674,169 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
C |
CTCAG |
6: 137,494,068 (GRCm39) |
|
probably null |
Het |
| Exd2 |
GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC |
GCAGCCACAGC |
12: 80,522,674 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
CAGCCAGAGC |
CAGC |
12: 80,522,729 (GRCm39) |
|
probably benign |
Het |
| Gm10447 |
AAAAAAAAAGAAAAA |
AAAAAA |
11: 53,347,165 (GRCm39) |
|
probably benign |
Het |
| Gm10521 |
CTCTCTCTCT |
CTCTCTCTCTCTCT |
1: 171,723,860 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
TGTG |
TGTGCGAGTG |
19: 11,489,137 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
CACACACACACACACACTTAC |
CAC |
14: 62,646,090 (GRCm39) |
|
probably benign |
Het |
| Ier5l |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
2: 30,363,832 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,285,782 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAG |
CAGCCAAAG |
1: 83,019,867 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACCACAGC |
CCACCACAGCCACAGTCACCACAGC |
1: 83,020,002 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,530,501 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
GCAACA |
GCAACAACA |
X: 70,162,418 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCGGC |
X: 70,162,456 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,444 (GRCm39) |
|
probably benign |
Het |
| Manbal |
CGATAGAAT |
C |
2: 157,237,932 (GRCm39) |
|
probably null |
Het |
| Map1a |
GCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA |
2: 121,136,782 (GRCm39) |
|
probably benign |
Het |
| Mcph1 |
CTCT |
CTCTTCT |
8: 18,702,541 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GATACACGTTAGCAGTGAGGAGCAAGCTGA |
GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA |
2: 119,458,060 (GRCm39) |
|
probably benign |
Het |
| Or2t49 |
TGGAGGTGGATTGG |
TG |
11: 58,393,208 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
CCAGGTG |
C |
11: 54,001,061 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
CCACCA |
CCACCAACACCA |
4: 134,006,821 (GRCm39) |
|
probably benign |
Het |
| Polr1has |
CACCAC |
CACCACCCCCACCACCACCACAACCAC |
17: 37,275,958 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC |
GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,767 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
TCTCTCTCTCTCTCT |
TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT |
10: 84,694,344 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
GCTAAAAAAAAAAAAAAAAA |
G |
15: 36,010,981 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
AGG |
AGGGGG |
14: 52,386,850 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AAGAT |
AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT |
18: 60,966,625 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,036 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
| Trav6d-5 |
ATTTTT |
ATTTTTTTTTT |
14: 53,032,791 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CAGGACTCCCTGTGCCCAACGG |
CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
| Ttf2 |
TTCT |
TTCTTCT |
3: 100,870,473 (GRCm39) |
|
probably benign |
Het |
| Vat1l |
C |
T |
8: 115,016,069 (GRCm39) |
L320F |
probably damaging |
Het |
| Xirp2 |
TT |
TTTAT |
2: 67,355,888 (GRCm39) |
|
probably benign |
Het |
| Yipf3 |
AGAGGA |
AGA |
17: 46,559,898 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCGT |
4: 147,910,188 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Strn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00722:Strn
|
APN |
17 |
78,999,849 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02165:Strn
|
APN |
17 |
78,995,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02424:Strn
|
APN |
17 |
78,991,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02473:Strn
|
APN |
17 |
78,991,722 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03306:Strn
|
APN |
17 |
78,974,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0053:Strn
|
UTSW |
17 |
78,964,363 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0053:Strn
|
UTSW |
17 |
78,964,363 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0165:Strn
|
UTSW |
17 |
78,984,803 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1156:Strn
|
UTSW |
17 |
78,964,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1191:Strn
|
UTSW |
17 |
78,999,855 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1256:Strn
|
UTSW |
17 |
78,972,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1700:Strn
|
UTSW |
17 |
78,999,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Strn
|
UTSW |
17 |
78,984,755 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1897:Strn
|
UTSW |
17 |
78,990,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1912:Strn
|
UTSW |
17 |
78,991,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Strn
|
UTSW |
17 |
78,999,928 (GRCm39) |
splice site |
probably null |
|
|
R2357:Strn
|
UTSW |
17 |
78,963,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3054:Strn
|
UTSW |
17 |
78,990,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3693:Strn
|
UTSW |
17 |
78,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3694:Strn
|
UTSW |
17 |
78,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3695:Strn
|
UTSW |
17 |
78,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3941:Strn
|
UTSW |
17 |
78,965,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4431:Strn
|
UTSW |
17 |
79,043,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Strn
|
UTSW |
17 |
78,984,801 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4678:Strn
|
UTSW |
17 |
78,984,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Strn
|
UTSW |
17 |
78,965,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4947:Strn
|
UTSW |
17 |
78,969,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5470:Strn
|
UTSW |
17 |
78,964,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5710:Strn
|
UTSW |
17 |
78,995,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Strn
|
UTSW |
17 |
78,977,276 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6173:Strn
|
UTSW |
17 |
79,008,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Strn
|
UTSW |
17 |
78,977,787 (GRCm39) |
intron |
probably benign |
|
|
R6846:Strn
|
UTSW |
17 |
79,043,886 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7716:Strn
|
UTSW |
17 |
78,963,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7746:Strn
|
UTSW |
17 |
78,984,801 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7950:Strn
|
UTSW |
17 |
78,977,852 (GRCm39) |
missense |
|
|
|
R7997:Strn
|
UTSW |
17 |
78,991,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8344:Strn
|
UTSW |
17 |
78,980,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9074:Strn
|
UTSW |
17 |
79,043,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9523:Strn
|
UTSW |
17 |
78,967,575 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9538:Strn
|
UTSW |
17 |
78,972,219 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
RF006:Strn
|
UTSW |
17 |
78,984,700 (GRCm39) |
frame shift |
probably null |
|
|
RF008:Strn
|
UTSW |
17 |
78,984,716 (GRCm39) |
frame shift |
probably null |
|
|
RF017:Strn
|
UTSW |
17 |
78,984,717 (GRCm39) |
frame shift |
probably null |
|
|
RF018:Strn
|
UTSW |
17 |
78,984,712 (GRCm39) |
frame shift |
probably null |
|
|
RF031:Strn
|
UTSW |
17 |
78,984,706 (GRCm39) |
frame shift |
probably null |
|
|
RF036:Strn
|
UTSW |
17 |
78,984,706 (GRCm39) |
frame shift |
probably null |
|
|
RF038:Strn
|
UTSW |
17 |
78,984,711 (GRCm39) |
frame shift |
probably null |
|
|
RF039:Strn
|
UTSW |
17 |
78,984,707 (GRCm39) |
frame shift |
probably null |
|
|
RF044:Strn
|
UTSW |
17 |
78,984,717 (GRCm39) |
frame shift |
probably null |
|
|
RF045:Strn
|
UTSW |
17 |
78,984,711 (GRCm39) |
frame shift |
probably null |
|
|
RF047:Strn
|
UTSW |
17 |
78,984,703 (GRCm39) |
frame shift |
probably null |
|
|
RF047:Strn
|
UTSW |
17 |
78,984,699 (GRCm39) |
frame shift |
probably null |
|
|
RF048:Strn
|
UTSW |
17 |
78,984,716 (GRCm39) |
frame shift |
probably null |
|
|
X0022:Strn
|
UTSW |
17 |
79,008,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAGCTTCCTTATGGCTC -3'
(R):5'- GAACACAATGTGTCTGGCTG -3'
Sequencing Primer
(F):5'- TCTCGCCCAGCCTAGACAG -3'
(R):5'- AACACAATGTGTCTGGCTGAGTTAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation